Revel Score:
ENST00000540732
0.942
ENST00000269980 (MANE Select)
0.942
ENST00000542943
0.942
ENST00000457836
0.942
ENST00000378196
0.942
ENST00000541315
0.896
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422176C>T , CM000681.2:g.41422176C>T | GRCh38 |
| NC_000019.9:g.41928081C>T , CM000681.1:g.41928081C>T | GRCh37 |
| NC_000019.8:g.46619921C>T | NCBI36 |
| NG_013004.1:g.29388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.659C>T MANE Select | ENSP00000269980.2:p.Ala220Val | |
| ENST00000269980.6:c.659C>T | ENSP00000269980.2:p.Ala220Val | |
| ENST00000457836.6:c.593C>T | ENSP00000416000.2:p.Ala198Val | |
| ENST00000535632.5:n.288C>T | ||
| ENST00000538423.5:n.785C>T | ||
| ENST00000540732.3:c.761C>T | ENSP00000443246.1:p.Ala254Val | |
| ENST00000541315.1:c.559C>T | ||
| ENST00000542943.5:c.572C>T | ENSP00000440345.1:p.Ala191Val | |
| ENST00000545787.1:n.287C>T | ||
| ENST00000595085.5:c.659C>T | ENSP00000471150.2:p.Ala220Val | |
| NM_000709.3:c.659C>T | NP_000700.1:p.Ala220Val | |
| NM_001164783.1:c.659C>T | NP_001158255.1:p.Ala220Val | |
| NM_000709.4:c.659C>T MANE Select | NP_000700.1:p.Ala220Val | |
| NM_001164783.2:c.659C>T | NP_001158255.1:p.Ala220Val |